Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation

We present the clinical, biochemical, and molecular findings of three Greek patients with tyrosine hydroxylase (TH) deficiency. All patients presented with a severe clinical phenotype characterized by prominent motor delay, infantile parkinsonism, oculogyric crises, and signs of autonomic dysfunction. Cerebrospinal fluid analysis disclosed reduced dopamine metabolites and normal pterins. Response to levodopa was favorable though not dramatic. All patients were homozygous for a previously reported mutation (p.L236P). SNP haplotype analysis was consistent with a common ancestral mutation, thus indicating a founder effect in Greek patients with TH deficiency. © 2010 Movement Disorder Society     

Morphometric analysis of the endometrial epithelium of rats (Rattus norvegicus albinus) submitted to chronic experimental alcoholism

The effects of alcohol ingestion on the epithelial layer of the uterine endometrium of rats submitted to experimental chronic alcoholism were observed by morphometric methods. Sixty adult rats (Rattus norvegicus albinus) of the same age (3 months) and weighing on average 228 g were divided into two groups. The control group received solid diet, rat chow, and tap water ad libitum. The experimental group received the same solid diet and was allowed to drink only sugar cane brandy dissolved in 30 degrees Gay Lussac (v/v). At the end of 90, 180 and 270 days of treatment, the animals at estro were anaesthetized with ethyl ether, weighed and sacrificed. The internal reproductive organs were dissected, weighed and fixed. The final mean body weights were similar in the control and alcoholic groups. The histological results showed intense atrophy of the lining epithelium of the endometrium of uterine horns in the alcoholic group. Morphometric analysis confirmed the endometrial epithelial atrophy, showing that the alcoholic group had small cytoplasmic and nuclear areas and small cytoplasmic and nuclear perimeter compared to the control group. Scanning electron microscopic images showed intense lipid droplets accumulation in the epithelial cells from alcoholic group. Therefore, we concluded that alcohol acts as a toxin on the epithelial layer of the rat endometrium.     

Massive hemoptysis: control by embolization of the thyrocervical trunk

A case of recurrent hemoptysis following bronchial artery embolization is presented. The bleeding was successfully controlled by embolization of the thyrocervical trunk.     

The role of viruses in the aetiology of community-acquired pneumonia in adults

BACKGROUND: The role of viruses in community-acquired pneumonia may have been previously underestimated. We aimed to study the incidence and clinical characteristics of community-acquired pneumonia (CAP) due to respiratory viruses in adults adding PCR to routine conventional laboratory tests. METHODS: Consecutive adult patients diagnosed of CAP from January 2003 to March 2004 were included. Conventional tests including cultures of blood, sputum, urine antigen detection of Streptococcus pneumoniae and Legionella pneumophila, and paired serologies were routinely performed. Nasopharyngeal swabs were processed for study of respiratory viruses through antigen detection by indirect immunofluorescence assay, isolation of viruses in cell culture and detection of nucleic acids by two independent multiplex RT-PCR assays. According to the aetiology, patients were categorized in 4 groups: group 1, only virus detected; group 2, only bacteria detected; group 3, viral and bacterial; and group 4, unkown aetiology. RESULTS: Of 340 patients diagnosed with CAP, 198 had nasopharyngeal swabs available and were included in this study. Aetiology was established in 112 (57%) patients: group 1, n=26 (13%); group 2, n=66 (33%); group 3, n=20 (10%). The most common aetiological agent was S. neumoniae (58 patients, 29%), followed by respiratory viruses (46 patients, 23%). Forty-eight respiratory viruses were identified: influenza virus A (n=16), respiratory syncytial virus A (n=5), adenovirus (n=8), parainfluenza viruses (n=5), enteroviruses (n=1), rhinoviruses (n=8) and coronavirus (n=5). There were two patients coinfected by two respiratory viruses. Serology detected 6 viruses, immunofluorescence 8, viral culture 12, and PCR 45. For the viruses that could be diagnosed with conventional methods, the sensitivity and specificity of RT-PCR was 85% and 92%, respectively. The only clinical characteristic that significantly distinguished viral from bacterial aetiology was a lower number of leukocytes (P=0.004). CONCLUSION: PCR revealed that viruses represent a common aetiology of CAP. There is an urgent need to reconsider routine laboratory tests for an adequate diagnosis of respiratory viruses, as clinical characteristics are unable to reliably distinguish viral from bacterial aetiology.     

Regional specificity of the long-term regulation of tyrosine hydroxylase in some catecholaminergic rat brainstem areas. I. Influence of long-term hypoxia

The present study was carried out to investigate the influence of long-term hypoxia on tyrosine hydroxylase (TH) protein quantity in some catecholaminergic rat brainstem areas such as the dorsomedial medulla (DMM), the ventrolateral medulla (VLM) and the locus coeruleus (LC). TH protein quantity was also measured in a dopaminergic structure, the substantia nigra (SN). Male Sprague-Dawley rats were exposed to normobaric hypoxia (10% O₂/90% N₂) for 3, 7, 14 or 22 days. Controls were kept in normoxia for the same period. This study demonstrates that: (1) 3 days of hypoxia produced a 50% and a 26% increase in the quantity of TH protein in the rostral and caudal LC, respectively; (2) 14 days of hypoxia produced a 44% increase of TH protein content exclusively in the caudal part of DMM and a 31% increase in the VLM area; and (3) the stimulus failed to alter the TH protein quantity in the SN. After 14 and 22 days of hypoxia respectively, the TH protein content in the LC and DMM returned to the level of controls. To determine whether the increase in TH protein quantity could be related to a change in norepinephrine (NE) content, the rate constant of disappearance (k) of NE was measured in the catecholaminergic areas of intact or chemodenervated rats submitted to long-term hypoxia. Our results show that hypoxia causes an increase of TH protein quantity within the subpopulations of catecholaminergic areas additionally with an elevation in the NE content. These data suggest a selective response of the TH regulation to long-term hypoxia within the caudal DMM catecholaminergic area which receives chemosensory inputs.     

Bradykinesia in Huntington's disease

Huntington's disease (HD) is characterized by the presence of hyperkinesias, but bradykinesia is also present in most patients. We studied the motor performance of 18 patients with genetically proven HD (age, 38.5 +/- 10 y; clinical stage, 1.7 +/- 1.7; (CAG) triplet length, 49.2 +/- 6.8 triplets; all but three patients were free from neuroleptics) and compared with a control group (n = 18) and with a typical Parkinson's disease (PD) group (n = 20). Motor study included the four timed tests commonly used for PD: Pronation-supination (PS), finger dexterity (FD), movement between two points (MTP) and walking test (WT). Tests were done at 9 AM. The PD group was studied in "off" condition, with no medication given for 12 hours. The HD group was slower than the controls on all tasks (all tests significant, p < 0.01, Mann-Whitney U test) and even slower than PD group (for FD, p < 0.05). A significant correlation was found between each test and clinical stage (for PS, r = 0.84; for FD, r = 0.75; for MTP, r = 087, and for WT, r = 0.77, Pearson). Severe bradykinesia was present in HD, and motor impairment is related to clinical stage.